{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:05:48Z","timestamp":1747184748199,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T00:00:00Z","timestamp":1602460800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011963","name":"European Academy of Neurology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Mutations in the <jats:italic>PSEN1<\/jats:italic> gene are the most common cause of autosomal\u2010dominant Alzheimer\u2019s disease and have been associated with the earliest disease onset. We describe an unusual presentation of the rare <jats:italic>R377W PSEN1<\/jats:italic> mutation with a late age of onset, and we provide for the first time <jats:italic>in vivo<\/jats:italic> pathological evidence for this mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 71\u2010year\u2010old female patient with progressive cognitive decline in the past 3 years and positive family history for dementia underwent neurological evaluation, neuropsychological testing, lumbar puncture, conventional brain imaging, amyloid\u2010positron emission tomography (PET) and extensive genetic screening with a next\u2010generation sequencing technique.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The diagnostic workup revealed mixed behavioural and amnestic disease features on neuropsychological tests, magnetic resonance imaging, and 18\u2010fluorodeoxyglucose (FDG)\u2010PET. Amyloid\u2010PET detected amyloid deposition in the frontal areas, in the parietal lobes and the precunei. The genetic screening revealed the presence of the rare <jats:italic>R377W<\/jats:italic> mutation in the <jats:italic>PSEN1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Extensive genetic screening is also advisable for late\u2010onset presentations of Alzheimer\u2019s disease, especially in the presence of a positive family history or atypical clinical features.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14506","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T21:38:21Z","timestamp":1601329101000},"page":"2630-2634","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Late\u2010onset presentation and phenotypic heterogeneity of the rare <i>R377W PSEN1<\/i> mutation"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2420-6447","authenticated-orcid":false,"given":"M.","family":"Scarioni","sequence":"first","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"},{"name":"Dino Ferrari Center University of Milan Milan Italy"},{"name":"Department of Pathology Amsterdam Neuroscience Amsterdam University Medical Centers Amsterdam The Netherlands"},{"name":"Department of Neurology Alzheimer Center Amsterdam University Medical Centers Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Arighi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"},{"name":"Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Fenoglio","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"},{"name":"Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"},{"name":"Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Serpente","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"},{"name":"Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Rotondo","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"},{"name":"Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mercurio","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"},{"name":"Dino Ferrari Center University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Marotta","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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